Incidental Mutation 'R4355:Obi1'
| ID |
327516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obi1
|
| Ensembl Gene |
ENSMUSG00000022120 |
| Gene Name |
ORC ubiquitin ligase 1 |
| Synonyms |
2610206B13Rik, 2810449K13Rik, Rnf219 |
| MMRRC Submission |
041108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104716693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 560
(V560A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022716]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022716
AA Change: V560A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022716
Gene: ENSMUSG00000022120
AA Change: V560A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
55 |
2.78e-3 |
SMART |
|
coiled coil region
|
87 |
129 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226423
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
G |
8: 44,023,222 (GRCm39) |
Q89H |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,415,511 (GRCm39) |
F697S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,544,788 (GRCm39) |
V769E |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,681,566 (GRCm39) |
F173L |
probably null |
Het |
| Bcl3 |
G |
T |
7: 19,545,505 (GRCm39) |
C208* |
probably null |
Het |
| Bmal1 |
A |
G |
7: 112,902,613 (GRCm39) |
I421V |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,036,792 (GRCm39) |
S1685P |
unknown |
Het |
| Cep250 |
A |
G |
2: 155,833,445 (GRCm39) |
E1789G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,759,710 (GRCm39) |
D334E |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,531,219 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,248,271 (GRCm39) |
S208G |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,468 (GRCm39) |
V388A |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,599,333 (GRCm39) |
A1896V |
possibly damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,963 (GRCm39) |
R411S |
probably benign |
Het |
| F7 |
A |
G |
8: 13,084,774 (GRCm39) |
T267A |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,848,101 (GRCm39) |
D1770E |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,120 (GRCm39) |
Y387N |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,256,729 (GRCm39) |
L1491F |
probably damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,260 (GRCm39) |
I110M |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,665,367 (GRCm39) |
C28S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,472,342 (GRCm39) |
N132S |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,578 (GRCm39) |
N392K |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,189 (GRCm39) |
S80P |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,855,036 (GRCm39) |
C721Y |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klrc3 |
T |
C |
6: 129,616,125 (GRCm39) |
M189V |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,368,884 (GRCm39) |
E394V |
possibly damaging |
Het |
| Mrgprb4 |
C |
T |
7: 47,848,449 (GRCm39) |
G160R |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Nf2 |
G |
A |
11: 4,730,613 (GRCm39) |
Q513* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,292,205 (GRCm39) |
T150M |
possibly damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,216 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or12k8 |
C |
A |
2: 36,974,942 (GRCm39) |
V273F |
probably benign |
Het |
| Patj |
T |
G |
4: 98,538,691 (GRCm39) |
C210W |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,015,522 (GRCm39) |
H246R |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,197,082 (GRCm39) |
H56R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,546,629 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,166,236 (GRCm39) |
S8N |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Rsph6a |
T |
A |
7: 18,801,003 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,664,698 (GRCm39) |
N3535S |
probably benign |
Het |
| Ston1 |
T |
G |
17: 88,944,436 (GRCm39) |
V614G |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,138,695 (GRCm39) |
T466S |
possibly damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,144 (GRCm39) |
I262N |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,596 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,858 (GRCm39) |
E16K |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,438,502 (GRCm39) |
S193R |
possibly damaging |
Het |
| Ugt2b5 |
C |
A |
5: 87,287,622 (GRCm39) |
E182* |
probably null |
Het |
| Usp43 |
A |
G |
11: 67,782,290 (GRCm39) |
V376A |
probably benign |
Het |
| Utp15 |
A |
T |
13: 98,395,755 (GRCm39) |
F76I |
possibly damaging |
Het |
| Wdr62 |
A |
C |
7: 29,941,673 (GRCm39) |
L1141R |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,175,161 (GRCm39) |
M18K |
probably benign |
Het |
|
| Other mutations in Obi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Obi1
|
APN |
14 |
104,716,823 (GRCm39) |
nonsense |
probably null |
|
|
IGL01731:Obi1
|
APN |
14 |
104,716,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2505:Obi1
|
UTSW |
14 |
104,740,885 (GRCm39) |
splice site |
probably benign |
|
|
IGL03098:Obi1
|
UTSW |
14 |
104,716,253 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4651001:Obi1
|
UTSW |
14 |
104,743,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Obi1
|
UTSW |
14 |
104,740,780 (GRCm39) |
splice site |
probably null |
|
|
R0047:Obi1
|
UTSW |
14 |
104,740,780 (GRCm39) |
splice site |
probably null |
|
|
R0394:Obi1
|
UTSW |
14 |
104,716,289 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0608:Obi1
|
UTSW |
14 |
104,716,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Obi1
|
UTSW |
14 |
104,717,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Obi1
|
UTSW |
14 |
104,717,200 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Obi1
|
UTSW |
14 |
104,717,098 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1922:Obi1
|
UTSW |
14 |
104,716,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2018:Obi1
|
UTSW |
14 |
104,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Obi1
|
UTSW |
14 |
104,759,968 (GRCm39) |
splice site |
probably benign |
|
|
R2182:Obi1
|
UTSW |
14 |
104,743,612 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2336:Obi1
|
UTSW |
14 |
104,716,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Obi1
|
UTSW |
14 |
104,717,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4703:Obi1
|
UTSW |
14 |
104,743,644 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4738:Obi1
|
UTSW |
14 |
104,747,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Obi1
|
UTSW |
14 |
104,747,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Obi1
|
UTSW |
14 |
104,716,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5025:Obi1
|
UTSW |
14 |
104,745,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Obi1
|
UTSW |
14 |
104,745,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Obi1
|
UTSW |
14 |
104,716,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Obi1
|
UTSW |
14 |
104,716,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6427:Obi1
|
UTSW |
14 |
104,717,662 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6482:Obi1
|
UTSW |
14 |
104,717,253 (GRCm39) |
nonsense |
probably null |
|
|
R6518:Obi1
|
UTSW |
14 |
104,716,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Obi1
|
UTSW |
14 |
104,759,993 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6731:Obi1
|
UTSW |
14 |
104,716,910 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6754:Obi1
|
UTSW |
14 |
104,740,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6812:Obi1
|
UTSW |
14 |
104,747,868 (GRCm39) |
missense |
unknown |
|
|
R7225:Obi1
|
UTSW |
14 |
104,717,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Obi1
|
UTSW |
14 |
104,716,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Obi1
|
UTSW |
14 |
104,716,681 (GRCm39) |
nonsense |
probably null |
|
|
R8322:Obi1
|
UTSW |
14 |
104,717,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Obi1
|
UTSW |
14 |
104,717,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8780:Obi1
|
UTSW |
14 |
104,717,082 (GRCm39) |
nonsense |
probably null |
|
|
R8986:Obi1
|
UTSW |
14 |
104,745,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0002:Obi1
|
UTSW |
14 |
104,745,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGAATGAGAAGTGGAGTG -3'
(R):5'- TCAGGATCGTGCTTGTCCAAG -3'
Sequencing Primer
(F):5'- GAGAAAAATCTTCACTCATCTCGTGG -3'
(R):5'- TGCTTGTCCAAGAGACTCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation